A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.

by Paul Guéguen, Karen Rouault, Jian-Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan-Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean-Francois Abgrall, Cédric Le Maréchal, Claude Férec
Published 2013-01-01